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386 Possible Causes for Cardiomyopathy, Round Face, Short Neck

  • Mucopolysaccharidosis

    Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[] Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal[] […] mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy[]

  • Mucopolysaccharidosis 2

    Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.[] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[] Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly Cardiomyopathy[]

  • Mucopolysaccharidosis 1

    Airway evaluation: abnormal neck anatomy, short neck with limited mobility, hyromental and thyromentonian distance less than 6 cm, severely limited jaw protrusion, mouth opening[] Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[] Features include short-trunk dwarfism, short neck, joint hypermobility, respiratory disease, cardiac disease, impaired vision with corneal clouding, hearing loss, dental abnormalities[]

  • Pseudopseudohypoparathyroidism

    Keywords: Albright hereditary osteodystrophy; GNAS1; MC4R; normal stature; pseudopseudohypoparathyroidism Figures Normal stature, obesity, round face, short neck (A), short[] Hypofunction Diabetes mellitus types: ( type 1 , type 2 , MODY 1 2 3 4 5 6 ) · complications ( coma , angiopathy , ketoacidosis , nephropathy , neuropathy , retinopathy , cardiomyopathy[] She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal[] , myofibrillar MYPN Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) NEXN Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy[] […] dystrophy Pulverulent cataract Autosomal dominant nonsyndromic sensorineural deafness type DFNA Left ventricular noncompaction Nuclear cataract Familial isolated dilated cardiomyopathy[]

  • Barth Syndrome

    Infants born with Jarcho-Levin syndrome have short necks, limited neck movement, a short stature and difficulty breathing, due to small, malformed chests that have a distinctive[] Grimm, W, Christ, M, Bach, J, Muller, HH, Maisch, B 2003 Noninvasive arrhythmia risk stratification in idiopathic dilated cardiomyopathy: results of the Marburg Cardiomyopathy[] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[]

  • Trisomy 12p

    […] double‐outlet right ventricle Teber, Serap / Sezer, Taner / Aypar, Ebru / Kendirli, Tanıl / Atalay, Semra / Deda, Gülhis 2010 503 Prader–Willi syndrome associated with dilated cardiomyopathy[] Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[] neck, rounded facies with prominent cheeks, high prominent forehead, hypertelorism, epicanthic folds, broad nasal bridge and other facial dysmorphism.[]

  • Cri Du Chat Syndrome

    neck Studies show that facial characteristics change over time, in particular, lengthening of the face and coarsening of features.[] face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia.[] neck partial webbing or fusion of fingers or toes a single crease in the palm of the hands slow or incomplete development of developmental skills heart defects.[]

  • Aarskog Syndrome

    Hunter Syndrome Huntington Disease Huntington Disease – Non-Disclosing Hurler Syndrome Hyaline Fibromatosis Syndrome Hydrocephalus Hypertrophic Cardiomyopathy Hypokalemic[] Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a[] Keywords Internal Medicine Metabolic Disease Short Stature Short Neck Small Hand These keywords were added by machine and not by the authors.[]

  • Pseudohypoparathyroidism Type 1C

    N D00000235 Hypertrophic cardiomyopathy N D00000236 Hypertrophic cardiomyopathy (familial) N D00000237 Idiopathic dilated cardiomyopathy N D00000238 Long QT syndrome N D00000239[] Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Abdominal symptom 0011458[] They display the symptoms and signs of AHO (brachydactyly (most often the shortening of the 3, 4 and 5th metacarpals), rounded face, short stature, central obesity, subcutaneous[]

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